RPE65 [The Human Chemical-Genetic Interaction Map Project]

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======= RPE65 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RPE65
  * **<color #00a2e8>Official Name</color>**: retinoid isomerohydrolase RPE65
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6121|6121]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q16518|Q16518]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RPE65&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RPE65|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/180069|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans- retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore (PubMed:16116091). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17848510). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans- retinol), making it available for LRAT processing to all-trans- retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis- retinol, a reaction catalyzed by LRAT (By similarity). {ECO:0000250|UniProtKB:Q28175, ECO:0000269|PubMed:16116091, ECO:0000269|PubMed:17848510, ECO:0000269|PubMed:28874556}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|RPE65|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|zeaxanthin metabolic process|
|zeaxanthin biosynthetic process|
|xanthophyll biosynthetic process|
|all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity|
|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity|
|tetraterpenoid biosynthetic process|
|retinol isomerase activity|
|carotenoid biosynthetic process|
|xanthophyll metabolic process|
|regulation of rhodopsin gene expression|
|carotenoid metabolic process|
|tetraterpenoid metabolic process|
|retinal isomerase activity|
|vitamin A metabolic process|
|cardiolipin binding|
|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|
|cellular response to electrical stimulus|
|retinal metabolic process|
|isomerase activity|
|terpenoid biosynthetic process|
|detection of light stimulus involved in sensory perception|
|detection of light stimulus involved in visual perception|
|isoprenoid biosynthetic process|
|phosphatidylcholine binding|
|fat-soluble vitamin metabolic process|
|retinol metabolic process|
|response to electrical stimulus|
|photoreceptor cell development|
|detection of visible light|
|retina morphogenesis in camera-type eye|
|pigment biosynthetic process|
|cellular aldehyde metabolic process|
|neural retina development|
|photoreceptor cell differentiation|
|phosphatidylserine binding|
|detection of light stimulus|
|pigment metabolic process|
|cell body|
|retina homeostasis|
|primary alcohol metabolic process|
|insulin receptor signaling pathway|
|retinoid metabolic process|
|diterpenoid metabolic process|
|camera-type eye morphogenesis|
|terpenoid metabolic process|
|detection of external stimulus|
|cellular hormone metabolic process|
|detection of abiotic stimulus|
|vitamin metabolic process|
|isoprenoid metabolic process|
|retina development in camera-type eye|
|circadian rhythm|
|eye morphogenesis|
|cellular response to insulin stimulus|
|tissue homeostasis|
|hormone metabolic process|
|visual perception|
|sensory perception of light stimulus|
|response to insulin|
|sensory organ morphogenesis|
|cellular response to peptide hormone stimulus|
|rhythmic process|
|response to light stimulus|
|camera-type eye development|
|cellular response to abiotic stimulus|
|cellular response to environmental stimulus|
|alcohol metabolic process|
|multicellular organismal homeostasis|
|cellular response to peptide|
|anatomical structure homeostasis|
|eye development|
|visual system development|
|sensory system development|
|response to peptide hormone|
|response to radiation|
|organic hydroxy compound metabolic process|
|response to peptide|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|regulation of hormone levels|
|detection of stimulus involved in sensory perception|
|sensory organ development|
|lipid biosynthetic process|
|cellular response to organonitrogen compound|
|cellular response to hormone stimulus|
|cellular response to nitrogen compound|
|detection of stimulus|
|enzyme linked receptor protein signaling pathway|
|neuron development|
|response to hormone|
|endoplasmic reticulum membrane|
|cellular lipid metabolic process|
|animal organ morphogenesis|
|oxidation-reduction process|
|sensory perception|
|response to organonitrogen compound|
|neuron differentiation|
|cellular response to oxygen-containing compound|
|response to nitrogen compound|
|response to abiotic stimulus|
|lipid metabolic process|
|cellular response to endogenous stimulus|
|nervous system process|
|response to endogenous stimulus|
|generation of neurons|
|response to oxygen-containing compound|
|neurogenesis|
|homeostatic process|
|cell development|
|small molecule metabolic process|
|system process|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp512|Olaparib 4μM R08 exp512]]|1.8|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 7910
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -7.68 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='RPE65 Expression in NALM6 Cells: -7.68'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>